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Li-Fraumeni syndrome

From Surgopaedia

Also known as sarcoma, breast, leukaemia and adrenal gland cancer syndrome (SBLA)

Genetics

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  • Autosomal dominant
  • Mutation in TP53 (17p13.1) which encodes p53 (tumour suppressor gene)
  • p53 normally functions to facilitate clearance of damaged cellular DNA and to prevent clonal propagation of these mutated sequences
  • High prevalence - lifetime risk of cancer approaches 100% for women, 73% for men

Diagnosis

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  • Multiple sets of criteria, due to difficulty establishing the molecular variant present
  • Need to demonstrate a TP53 variant, along with either personal or family history of a specific cancer

Risks (descending order of prevalence)

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  • Breast cancer
    • Median age 33
    • 85% by age 60
    • Mastectomy recommended
    • More likely to be HER2+
  • Soft tissue sarcoma (50% by 70yo)
    • Rhabdomyosarcoma
    • Undifferentiated pleomorphic sarcoma
    • Pleomorphic sarcoma
  • Adrenocortical carcinomas
  • Brain tumours
  • Osteosarcoma
  • Colorectal cancer (24%)
  • Gastric adenocarcinoma
  • ACC

Presentation

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  • Wide range
  • Some develop rhabdomyosarcoma younger than 4yo

Screening

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  • Annual whole-body MRI
  • Dedicated breast imaging annually starting at 18yo
  • Colonoscopy every 2-5 years starting age 20
  • Gastroscopy every 2-5 years from 25yo
  • Annual dermatology review from age 18

Surgery

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  • Recommend bilateral risk-reducing mastectomy
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